Term Name: | combined oxidative phosphorylation deficiency 1 |
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Synonyms: | COXPD1, early fatal progressive hepatoencephalopathy, hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, hepatoencephalopathy due to COXPD1 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. |
Ontology: | Human Disease [DOID:0111474] ( DOID:0111474 ) |